Abstract:
:Variations at the ITGAM gene, which encodes for the CD11b chain of the Mac-1 (alphaMbeta2; CD11b/CD18; complement receptor-3) integrin, is one of the strongest genetic risk factors for systemic lupus erythematosus (SLE). More specifically, a genetic variant (rs1143679) which results in an arginine to histidine substitution at position 77 in the extracellular portion of the integrin is associated with disease. It has recently been shown that this amino acid substitution results in a dysfunctional integrin, which is deficient in mediating cell adhesion to integrin ligands, phagocytosis and in addition cannot restrict inflammatory cytokine production in macrophages. In this review, we discuss immunological functions of the Mac-1 integrin and how defects in the genetic variant of Mac-1 may relate to SLE development.
journal_name
Lupusjournal_title
Lupusauthors
Fagerholm SC,MacPherson M,James MJ,Sevier-Guy C,Lau CSdoi
10.1177/0961203313491851subject
Has Abstractpub_date
2013-06-01 00:00:00pages
657-63issue
7eissn
0961-2033issn
1477-0962pii
22/7/657journal_volume
22pub_type
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